Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000470432 [[150480537, 150480755], [150482006, 150482057], [150482136, 150484307], [150484827, 150485048], [150485200, 150485288], [150485712, 150486029]] None
ENST00000369049 [[150480551, 150480755], [150482006, 150482057], [150482136, 150482232], [150482310, 150482478], [150482577, 150482658], [150483351, 150483674], [150483932, 150484307], [150484827, 150485048], [150485200, 150485288], [150485712, 150486030]] [[150480685, 150480755], [150482006, 150482057], [150482136, 150482232], [150482310, 150482478], [150482577, 150482658], [150483351, 150483674], [150483932, 150484307], [150484827, 150485048], [150485200, 150485288], [150485712, 150485943]]
ENST00000498579 [[150480557, 150480755], [150482006, 150482057], [150482136, 150482478], [150482577, 150482658], [150483351, 150483622]] None
ENST00000369047 [[150480560, 150480755], [150482006, 150482057], [150482136, 150482238], [150482397, 150482478], [150482577, 150482658], [150483351, 150483674], [150483932, 150484307], [150484827, 150485048], [150485200, 150485288], [150485712, 150486265]] [[150480685, 150480755], [150482006, 150482057], [150482136, 150482238], [150482397, 150482478], [150482577, 150482658], [150483351, 150483674], [150483932, 150484307], [150484827, 150485048], [150485200, 150485288], [150485712, 150485943]]
ENST00000496744 [[150480569, 150480755], [150482006, 150482057], [150482136, 150482478], [150482577, 150483028]] None
ENST00000346569 [[150480582, 150480755], [150482006, 150482057], [150482136, 150482238], [150482397, 150482478], [150482577, 150482658], [150483351, 150483674], [150484827, 150485048], [150485200, 150485288], [150485712, 150486036]] [[150480685, 150480755], [150482006, 150482057], [150482136, 150482238], [150482397, 150482478], [150482577, 150482658], [150483351, 150483674], [150484827, 150485048], [150485200, 150485288], [150485712, 150485943]]
ENST00000490346 [[150481777, 150481835], [150482006, 150482057], [150482136, 150482478], [150482577, 150482628]] None
NM_001202858 [[150480486, 150480755], [150482006, 150482057], [150482136, 150482232], [150482310, 150482478], [150482577, 150482658], [150483351, 150483674], [150483932, 150484307], [150484827, 150485048], [150485200, 150485288], [150485712, 150486265]] [[150480685, 150480755], [150482006, 150482057], [150482136, 150482232], [150482310, 150482478], [150482577, 150482658], [150483351, 150483674], [150483932, 150484307], [150484827, 150485048], [150485200, 150485288], [150485712, 150485943]]
NM_022664 [[150480486, 150480755], [150482006, 150482057], [150482136, 150482238], [150482397, 150482478], [150482577, 150482658], [150483351, 150483674], [150484827, 150485048], [150485200, 150485288], [150485712, 150486265]] [[150480685, 150480755], [150482006, 150482057], [150482136, 150482238], [150482397, 150482478], [150482577, 150482658], [150483351, 150483674], [150484827, 150485048], [150485200, 150485288], [150485712, 150485943]]
NM_004425 [[150480486, 150480755], [150482006, 150482057], [150482136, 150482238], [150482397, 150482478], [150482577, 150482658], [150483351, 150483674], [150483932, 150484307], [150484827, 150485048], [150485200, 150485288], [150485712, 150486265]] [[150480685, 150480755], [150482006, 150482057], [150482136, 150482238], [150482397, 150482478], [150482577, 150482658], [150483351, 150483674], [150483932, 150484307], [150484827, 150485048], [150485200, 150485288], [150485712, 150485943]]
Promoter
Chrom Start End Description
chr1 150480551 150480560 CAGE_peak_2_at_ECM1_5end
chr1 150480576 150480591 CAGE_peak_1_at_ECM1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I150486 150486785 150488494 2.13 [{'connected_gene': 'TARS2', 'score': 557.61}, {'connected_gene': 'SETDB1', 'score': 83.75}, {'connected_gene': 'PRPF3', 'score': 69.34}, {'connected_gene': 'GABPB2', 'score': 63.62}, {'connected_gene': 'PIP5K1A', 'score': 60.04}, {'connected_gene': 'SF3B4', 'score': 57.29}, {'connected_gene': 'PI4KB', 'score': 51.89}, {'connected_gene': 'ZNF687', 'score': 51.02}, {'connected_gene': 'UBE2D3P3', 'score': 37.23}, {'connected_gene': 'RPRD2', 'score': 36.7}, {'connected_gene': 'ARNT', 'score': 32.33}, {'connected_gene': 'GOLPH3L', 'score': 31.19}, {'connected_gene': 'ADAMTSL4', 'score': 21.46}, {'connected_gene': 'MRPS21', 'score': 19.9}, {'connected_gene': 'POGZ', 'score': 19.79}, {'connected_gene': 'HIST2H2AB', 'score': 19.34}, {'connected_gene': 'HIST2H2BC', 'score': 18.62}, {'connected_gene': 'C1orf56', 'score': 13.32}, {'connected_gene': 'BOLA1', 'score': 12.38}, {'connected_gene': 'HIST2H2BD', 'score': 11.73}, {'connected_gene': 'APH1A', 'score': 10.58}, {'connected_gene': 'ENSG00000261716', 'score': 10.55}, {'connected_gene': 'RN7SL444P', 'score': 10.24}, {'connected_gene': 'CTSK', 'score': 10.06}, {'connected_gene': 'MCL1', 'score': 9.81}, {'connected_gene': 'PRUNE1', 'score': 9.73}, {'connected_gene': 'ECM1', 'score': 9.36}, {'connected_gene': 'MIR6878', 'score': 0.77}]
chr1 GH01I150464 150464445 150464614 0.72 [{'connected_gene': 'TARS2', 'score': 12.62}, {'connected_gene': 'ECM1', 'score': 12.55}, {'connected_gene': 'ADAMTSL4', 'score': 11.57}, {'connected_gene': 'LOC100289061', 'score': 11.55}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 11.53}, {'connected_gene': 'CA14', 'score': 10.43}, {'connected_gene': 'CIART', 'score': 10.4}, {'connected_gene': 'CTSK', 'score': 9.59}, {'connected_gene': 'UBE2D3P3', 'score': 9.52}, {'connected_gene': 'GC01P150425', 'score': 0.28}, {'connected_gene': 'RPRD2', 'score': 0.15}]
chr1 GH01I150531 150531566 150533441 1.33 [{'connected_gene': 'ADAMTSL4', 'score': 28.72}, {'connected_gene': 'ECM1', 'score': 11.4}, {'connected_gene': 'CTSS', 'score': 6.18}, {'connected_gene': 'LOC105371436', 'score': 0.39}, {'connected_gene': 'GC01P150544', 'score': 0.39}]
chr1 GH01I150472 150472823 150474434 0.86 [{'connected_gene': 'ADAMTSL4', 'score': 22.34}, {'connected_gene': 'ECM1', 'score': 12.32}, {'connected_gene': 'LOC100289061', 'score': 11.5}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 11.47}, {'connected_gene': 'APH1A', 'score': 10.46}, {'connected_gene': 'C1orf54', 'score': 10.46}, {'connected_gene': 'HORMAD1', 'score': 9.62}, {'connected_gene': 'PRUNE1', 'score': 9.1}, {'connected_gene': 'RNU6-884P', 'score': 8.8}, {'connected_gene': 'TARS2', 'score': 0.39}, {'connected_gene': 'GC01P150425', 'score': 0.25}, {'connected_gene': 'RPRD2', 'score': 0.14}]
chr1 GH01I150254 150254987 150260761 2.66 [{'connected_gene': 'CA14', 'score': 554.1}, {'connected_gene': 'ENSG00000276110', 'score': 550.77}, {'connected_gene': 'MRPS21', 'score': 5.31}, {'connected_gene': 'ADAMTSL4', 'score': 4.65}, {'connected_gene': 'ECM1', 'score': 1.38}, {'connected_gene': 'C1orf54', 'score': 0.39}]
chr1 GH01I150362 150362216 150367397 2.31 [{'connected_gene': 'RPRD2', 'score': 560.46}, {'connected_gene': 'PRPF3', 'score': 49.8}, {'connected_gene': 'SETDB1', 'score': 46.98}, {'connected_gene': 'SF3B4', 'score': 40.95}, {'connected_gene': 'PI4KB', 'score': 40.62}, {'connected_gene': 'ZNF687', 'score': 34.13}, {'connected_gene': 'UBE2D3P3', 'score': 34.06}, {'connected_gene': 'PIP5K1A', 'score': 29.17}, {'connected_gene': 'ARNT', 'score': 24.0}, {'connected_gene': 'HIST2H2AB', 'score': 21.99}, {'connected_gene': 'MRPS21', 'score': 20.01}, {'connected_gene': 'RN7SL444P', 'score': 19.27}, {'connected_gene': 'GABPB2', 'score': 12.17}, {'connected_gene': 'GOLPH3L', 'score': 11.38}, {'connected_gene': 'C1orf54', 'score': 10.69}, {'connected_gene': 'APH1A', 'score': 10.65}, {'connected_gene': 'CTSK', 'score': 10.05}, {'connected_gene': 'ADAMTSL4', 'score': 9.97}, {'connected_gene': 'HIST2H2BC', 'score': 9.97}, {'connected_gene': 'ECM1', 'score': 9.17}, {'connected_gene': 'SEMA6C', 'score': 7.3}, {'connected_gene': 'TARS2', 'score': 6.97}, {'connected_gene': 'CTSS', 'score': 6.85}, {'connected_gene': 'GC01M150369', 'score': 0.44}]
chr1 GH01I150506 150506666 150507181 0.88 [{'connected_gene': 'ECM1', 'score': 550.77}, {'connected_gene': 'C1orf56', 'score': 12.41}, {'connected_gene': 'PIP5K1A', 'score': 10.04}, {'connected_gene': 'MIR6878', 'score': 0.39}, {'connected_gene': 'TARS2', 'score': 0.37}]
chr1 GH01I150309 150309578 150310679 0.52 [{'connected_gene': 'ECM1', 'score': 8.97}, {'connected_gene': 'ADAMTSL4', 'score': 8.62}, {'connected_gene': 'SEMA6C', 'score': 6.76}, {'connected_gene': 'PRPF3', 'score': 0.39}, {'connected_gene': 'LOC105371434', 'score': 0.37}]
chr1 GH01I150484 150484505 150485261 0.89 [{'connected_gene': 'ECM1', 'score': 12.19}, {'connected_gene': 'ADAMTSL4', 'score': 11.12}, {'connected_gene': 'LOC100289061', 'score': 11.1}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 11.08}, {'connected_gene': 'PRPF3', 'score': 10.52}, {'connected_gene': 'C1orf54', 'score': 10.39}, {'connected_gene': 'APH1A', 'score': 10.39}, {'connected_gene': 'CA14', 'score': 9.89}, {'connected_gene': 'UBE2D3P3', 'score': 9.69}, {'connected_gene': 'CTSK', 'score': 9.69}, {'connected_gene': 'RNU6-884P', 'score': 9.62}, {'connected_gene': 'PRUNE1', 'score': 9.62}, {'connected_gene': 'MINDY1', 'score': 9.36}, {'connected_gene': 'RNU6-1309P', 'score': 9.1}, {'connected_gene': 'HORMAD1', 'score': 6.13}, {'connected_gene': 'TARS2', 'score': 0.77}, {'connected_gene': 'GC01P150425', 'score': 0.22}]
chr1 GH01I150476 150476585 150478786 0.93 [{'connected_gene': 'ECM1', 'score': 21.57}, {'connected_gene': 'MRPS21', 'score': 17.84}, {'connected_gene': 'ADAMTSL4', 'score': 11.52}, {'connected_gene': 'LOC100289061', 'score': 11.5}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 11.48}, {'connected_gene': 'C1orf54', 'score': 10.46}, {'connected_gene': 'APH1A', 'score': 10.46}, {'connected_gene': 'HORMAD1', 'score': 9.62}, {'connected_gene': 'PRUNE1', 'score': 9.1}, {'connected_gene': 'RNU6-884P', 'score': 8.8}, {'connected_gene': 'SEMA6C', 'score': 7.3}, {'connected_gene': 'TARS2', 'score': 0.44}, {'connected_gene': 'GC01P150425', 'score': 0.23}]
chr1 GH01I150507 150507327 150509612 1.55 [{'connected_gene': 'ECM1', 'score': 559.66}, {'connected_gene': 'MRPS21', 'score': 20.05}, {'connected_gene': 'ADAMTSL4', 'score': 20.0}, {'connected_gene': 'LOC100289061', 'score': 11.66}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 11.62}, {'connected_gene': 'CA14', 'score': 10.26}, {'connected_gene': 'RPRD2', 'score': 7.18}, {'connected_gene': 'TARS2', 'score': 4.78}, {'connected_gene': 'CTSS', 'score': 3.89}, {'connected_gene': 'GC01P150516', 'score': 0.44}]
chr1 GH01I150386 150386414 150388314 0.82 [{'connected_gene': 'CIART', 'score': 10.4}, {'connected_gene': 'ECM1', 'score': 9.37}, {'connected_gene': 'ADAMTSL4', 'score': 8.09}, {'connected_gene': 'SEMA6C', 'score': 7.29}, {'connected_gene': 'GC01M150369', 'score': 0.39}, {'connected_gene': 'RPRD2', 'score': 0.34}, {'connected_gene': 'GC01P150425', 'score': 0.28}]
chr1 GH01I151054 151054067 151063940 2.53 [{'connected_gene': 'MLLT11', 'score': 550.77}, {'connected_gene': 'CDC42SE1', 'score': 550.39}, {'connected_gene': 'SETDB1', 'score': 79.74}, {'connected_gene': 'PRPF3', 'score': 70.84}, {'connected_gene': 'ARNT', 'score': 56.35}, {'connected_gene': 'PI4KB', 'score': 54.9}, {'connected_gene': 'ZNF687', 'score': 51.93}, {'connected_gene': 'GABPB2', 'score': 51.68}, {'connected_gene': 'PIP5K1A', 'score': 51.53}, {'connected_gene': 'UBE2D3P3', 'score': 49.88}, {'connected_gene': 'GOLPH3L', 'score': 39.46}, {'connected_gene': 'CTSK', 'score': 35.96}, {'connected_gene': 'MRPL9', 'score': 28.66}, {'connected_gene': 'BNIPL', 'score': 24.37}, {'connected_gene': 'PSMB4', 'score': 18.2}, {'connected_gene': 'RN7SL444P', 'score': 18.17}, {'connected_gene': 'RPS10P6', 'score': 11.81}, {'connected_gene': 'FALEC', 'score': 11.44}, {'connected_gene': 'RPRD2', 'score': 10.95}, {'connected_gene': 'ENSG00000229021', 'score': 9.93}, {'connected_gene': 'APH1A', 'score': 9.86}, {'connected_gene': 'PSMD4', 'score': 5.6}, {'connected_gene': 'ECM1', 'score': 3.97}]
chr1 GH01I150557 150557761 150580847 2.55 [{'connected_gene': 'RN7SL600P', 'score': 550.77}, {'connected_gene': 'MCL1', 'score': 550.39}, {'connected_gene': 'GOLPH3L', 'score': 56.07}, {'connected_gene': 'SETDB1', 'score': 54.87}, {'connected_gene': 'HORMAD1', 'score': 48.86}, {'connected_gene': 'PRPF3', 'score': 40.26}, {'connected_gene': 'PIP5K1A', 'score': 38.63}, {'connected_gene': 'PI4KB', 'score': 36.68}, {'connected_gene': 'SF3B4', 'score': 34.98}, {'connected_gene': 'ARNT', 'score': 33.02}, {'connected_gene': 'CTSK', 'score': 31.16}, {'connected_gene': 'ZNF687', 'score': 28.43}, {'connected_gene': 'GABPB2', 'score': 24.42}, {'connected_gene': 'UBE2D3P3', 'score': 24.14}, {'connected_gene': 'APH1A', 'score': 18.72}, {'connected_gene': 'C1orf56', 'score': 15.71}, {'connected_gene': 'RPRD2', 'score': 14.76}, {'connected_gene': 'VPS45', 'score': 13.42}, {'connected_gene': 'ENSA', 'score': 12.18}, {'connected_gene': 'CTSS', 'score': 11.31}, {'connected_gene': 'ADAMTSL4', 'score': 11.16}, {'connected_gene': 'HIST2H2AB', 'score': 10.76}, {'connected_gene': 'HIST2H2BD', 'score': 10.45}, {'connected_gene': 'RN7SL444P', 'score': 10.15}, {'connected_gene': 'PSMB4', 'score': 9.99}, {'connected_gene': 'SV2A', 'score': 9.8}, {'connected_gene': 'PRUNE1', 'score': 9.75}, {'connected_gene': 'C1orf54', 'score': 6.87}, {'connected_gene': 'ECM1', 'score': 6.49}, {'connected_gene': 'BNIPL', 'score': 6.19}, {'connected_gene': 'POGZ', 'score': 5.2}, {'connected_gene': 'LOC100289061', 'score': 5.13}, {'connected_gene': 'RFX5', 'score': 4.78}, {'connected_gene': 'TMOD4', 'score': 4.73}, {'connected_gene': 'GC01M150567', 'score': 0.77}, {'connected_gene': 'RN7SL473P', 'score': 0.77}, {'connected_gene': 'PIR41510', 'score': 0.44}, {'connected_gene': 'PIR48145', 'score': 0.44}, {'connected_gene': 'GC01M150578', 'score': 0.44}, {'connected_gene': 'GC01M150586', 'score': 0.44}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 0.44}]
chr1 GH01I150512 150512665 150514314 0.63 [{'connected_gene': 'GC01P150516', 'score': 550.77}, {'connected_gene': 'MRPS21', 'score': 20.23}, {'connected_gene': 'ADAMTSL4', 'score': 12.28}, {'connected_gene': 'LOC100289061', 'score': 12.27}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 12.21}, {'connected_gene': 'RPRD2', 'score': 10.57}, {'connected_gene': 'CA14', 'score': 10.26}, {'connected_gene': 'GOLPH3L', 'score': 5.77}, {'connected_gene': 'TARS2', 'score': 5.75}, {'connected_gene': 'ENSG00000261168', 'score': 4.46}, {'connected_gene': 'ECM1', 'score': 0.44}]
chr1 GH01I150514 150514456 150517172 1.53 [{'connected_gene': 'GC01P150516', 'score': 550.77}, {'connected_gene': 'FALEC', 'score': 550.77}, {'connected_gene': 'ADAMTSL4', 'score': 20.67}, {'connected_gene': 'MRPS21', 'score': 18.35}, {'connected_gene': 'PIP5K1A', 'score': 17.05}, {'connected_gene': 'SETDB1', 'score': 15.79}, {'connected_gene': 'C1orf56', 'score': 13.32}, {'connected_gene': 'LOC100289061', 'score': 12.27}, {'connected_gene': 'ADAMTSL4-AS1', 'score': 12.23}, {'connected_gene': 'CA14', 'score': 10.38}, {'connected_gene': 'SF3B4', 'score': 10.25}, {'connected_gene': 'ZNF687', 'score': 9.81}, {'connected_gene': 'PRUNE1', 'score': 9.74}, {'connected_gene': 'ECM1', 'score': 9.24}, {'connected_gene': 'SEMA6C', 'score': 8.14}, {'connected_gene': 'ENSG00000261168', 'score': 4.46}, {'connected_gene': 'LOC105371436', 'score': 0.44}]

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